Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations
TURKISH JOURNAL OF PEDIATRICS, vol.47, no.2, pp.167-169, 2005 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 47 Issue: 2
- Publication Date: 2005
- Journal Name: TURKISH JOURNAL OF PEDIATRICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.167-169
- Keywords: Fanconi-Bickel syndrome, glycogenosis, mutation analysis, GLUCOSE-TRANSPORTER, GLUT2 GENE, SLC2A2 GLUT2
- Hacettepe University Affiliated: Yes
Abstract
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.